Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project

  title={Clinical validation of cutoff target ranges in newborn screening of metabolic disorders by tandem mass spectrometry: A worldwide collaborative project},
  author={David McHugh and Cynthia A. Cameron and Jose E. Abdenur and M. K. A. Abdulrahman and Ona O Adair and Shahira Ahmed Al Nuaimi and Henrik {\AA}hlman and Jennifer Allen and Italo Antonozzi and Shaina L. Archer and Sylvia Mann Au and Christiane Auray-Blais and Mei W Baker and Fiona Bamforth and Kinga Beckmann and Gessi Bentz Pino and Stanton L. Berberich and Robert Binard and François Boemer and Jim R. Bonham and Nancy N. Breen and Sandra C Bryant and Michele Caggana and S. Graham Caldwell and Marta Camilot and Carlene Campbell and Claudia Carducci and Rohit Cariappa and Clover Carlisle and Ubaldo Caruso and Michela Cassanello and Ane Miren Castilla and Daisy E. Casti{\~n}eiras Ramos and Pranesh Chakraborty and Ram Sabarish Chandrasekar and Alfredo Ramos and David Cheillan and Yin-Hsiu Chien and Thomas A Childs and Petr Chrastina and Yuri Cleverthon Sica and Jose Angel Cocho de Juan and Maria Elena Colandre and Ver{\'o}nica Espinoza and Gaetano Corso and Robert Currier and Denis Cyr and No{\'e}mi Czuczy and Oceania D'Apolito and Timothy M E Davis and Monique G. M. de Sain-van der Velden and Carmen Delgado Pecellin and Iole Maria Di Gangi and Cristina Maria Di Stefano and Yannis Dotsikas and M. Scott Downing and Stephen M. Downs and Bonifacio Dy and Mark Dymerski and Inmaculada Rueda and Bert H Elvers and Roger B. Eaton and Barbara M Eckerd and Fatma El Mougy and Sarah Eroh and Mercedes Espada and Catherine L Evans and Sandy Fawbush and Kristel F Fijolek and Lawrence Fisher and Leifur Franzson and Dianne M. Frazier and Luciana R C Garcia and Maria Sierra Garc{\'i}a-Valdecasas Bermejo and Dimitar Gavrilov and Rosemarie Gerace and Giuseppe Franco Giordano and Yolanda Gonz{\'a}lez Irazabal and Lawrence C. Greed and Robert L. Grier and Elyse Grycki and Xue-fan Gu and Fizza Gulamali-Majid and Arthur F. Hagar and Lianshu Han and William H Hannon and Christa Haslip and Fayza Abdelhamid Hassan and Miao He and Amy Hietala and Leslie Himstedt and Gary L. Hoffman and William Hoffman and Philis Hoggatt and Patrick V. Hopkins and David Michael Hougaard and Kerie Hughes and Patricia R Hunt and Wuh-Liang Hwu and June Hynes and Isabel Ibarra-Gonz{\'a}lez and Cindy A Ingham and Maria D. Ivanova and Ward B Jacox and Catharine John and J Patrick Johnson and J{\'o}n J{\'o}hannes J{\'o}nsson and Eszter Karg and David Kasper and Brenda Klopper and Dimitris Katakouzinos and Issam Khneisser and Detlef Knoll and Hirinori Kobayashi and Ronald Koneski and V. Kozich and Rasoul Kouapei and Dirk Kohlmueller and Ivo Kremensky and Giancarlo la Marca and Marcia Lavochkin and Soo-Youn Lee and Denis C. Lehotay and A{\'i}da Lemes and Joyce Lepage and Barbara G. Lesko and Barry L. Lewis and Carol Sunghye Lim and Sharon M Linard and Martin Lindner and Michele A. Lloyd-Puryear and Fred W. Lorey and Yannis L. Loukas and Julie Luedtke and Neil Maffitt and James Fergall Magee and Adrienne Manning and Shawn M. Manos and Sandrine Marie and S{\^o}nia Marchezi Hadachi and Gregg Marquardt and Stephen J. Martin and Dietrich Matern and Stephanie K. Mayfield Gibson and Philip D. Mayne and Tonya D McCallister and Mark McCann and Julie McClure and James J. McGill and Christine D. McKeever and Barbara McNeilly and Mark A. Morrissey and Paraskevi C Moutsatsou and Eleanor A Mulcahy and Dimitris Nikoloudis and Bent Norgaard-Pedersen and Devin Oglesbee and Mariusz Oltarzewski and Daniela Ombrone and Jelili A Ojodu and Vagelis Papakonstantinou and Sherly Pardo Reoyo and H D Park and Marzia Pasquali and Elisabetta Pasquini and Pallavi Patel and Kenneth A. Pass and Colleen K. Peterson and Rolf Dagfinn Pettersen and James Jonathon Pitt and Sherry Poh and Arnold Pollak and Cory Porter and Philip A Poston and Ricky W Price and Cecilia Queijo and Jonessy Quesada and Edward Randell and Enzo Ranieri and Kimiyo Raymond and John E Reddic and Alejandra Reuben and Charla Ricciardi and Piero Rinaldo and Jeff D Rivera and Alicia W Roberts and Hugo A.O. Rocha and Geraldine Roche and Cheryl Rochman Greenberg and Jos{\'e} Mar{\'i}a Egea Mellado and Mar{\'i}a Jes{\'u}s Juan-Fita and Consuelo Puchades Ruiz and Margherita Ruoppolo and S. Lane Rutledge and Euijung Ryu and Christine Saban and Inderneel Sahai and Maria Isabel Salazar Garc{\'i}a-Blanco and Pedro J. Santiago-Borrero and Andrea Beatriz Schenone and Roland Schoos and Barb Schweitzer and Patricia Scott and Margretta R. Seashore and Mary A. Seeterlin and David E. Sesser and Darrin W. Sevier and Scott M Shone and Graham B Sinclair and Victor Anthony Skrinska and Eleanor L. Stanley and Erin T Strovel and April L Studinski Jones and Sherlykutty Sunny and Zolt{\'a}n Tak{\'a}ts and Tijen Tanyalçin and Francesca Teofoli and J. Robert Thompson and Kathy Tomashitis and Mouseline Torquado Domingos and Jasmin Torres and Rosario Torres and Silvia Tortorelli and S{\'a}ndor T{\'u}ri and Kimberley Turner and Nick Tzanakos and A. Garc{\'i}a Valiente and Hillary Vallance and Marcela Vela-Amieva and Laura Vilarinho and Ulrika von D{\"o}beln and M S Vincent and Barend C Vorster and Michael S. Watson and Dianne R. Webster and Sheila R Weiss and Bridget Wilcken and Veronica Wiley and Sharon K Williams and Sharon A. Willis and Michael R Woontner and Katherine Blair Wright and R. Yahyaoui and Seiji Yamaguchi and Melissa Yssel and Wendy M Zakowicz},
  journal={Genetics in Medicine},
Purpose: To achieve clinical validation of cutoff values for newborn screening by tandem mass spectrometry through a worldwide collaborative effort.Methods: Cumulative percentiles of amino acids and acylcarnitines in dried blood spots of approximately 25–30 million normal newborns and 10,742 deidentified true positive cases are compared to assign clinical significance, which is achieved when the median of a disorder range is, and usually markedly outside, either the 99th or the 1st percentile… CONTINUE READING